Chromosome 1q21.1 deletion syndrome, 1.35-mb

Preferred Label : Chromosome 1q21.1 deletion syndrome, 1.35-mb;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant; Isolated cases;

Molecular basis : Caused by a 1.35-Mb deletion of chromosome 1q21;

Prefixed ID : #612474;

Détails

Origin ID

612474;

UMLS CUI

C2675897;

CISMeF manual mappings
- 1q21.1 deletion syndrome [Disease (Nov.)]
Currated CISMeF NLP mapping
- 1q21.1 deletion [ICD-11 More detail]
- 1q21.1 microdeletion syndrome [ORDO Disease]
- 1q21.1 microdeletion syndrome (disorder) [SNOMED CT concept]
- chromosome 1q21.1 deletion syndrome [DO Concept]
- chromosome 1q21.1 deletion syndrome, 1.35-Mb [MeSH concept]
- chromosome 1q21.1 deletion syndrome, 1.35-Mb [MeSH Supplementary Concept]
DO Cross reference
- chromosome 1q21.1 deletion syndrome [DO Concept]
HPO term(s)
- Autism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Broad hallux [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Bulbous nose [HPO term]
- Coarctation of aorta [HPO term]
- Deeply set eye [HPO term]
- Frontal bossing [HPO term]
- Incomplete penetrance [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Microcephaly [HPO term]
- Patent ductus arteriosus [HPO term]
- Schizophrenia [HPO term]
- Sporadic [HPO term]
- Transposition of the great arteries [HPO term]
- Truncus arteriosus [HPO term]
ORDO concept(s)
- 1q21.1 microdeletion syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- 1q21.1 deletion [ICD-11 More detail]
- 1q21.1 deletion syndrome [Disease (Nov.)]
- 1q21.1 microdeletion syndrome [ORDO Disease]
- 1q21.1 microdeletion syndrome (disorder) [SNOMED CT concept]
- chromosome 1q21.1 deletion syndrome [DO Concept]
- chromosome 1q21.1 deletion syndrome, 1.35-Mb [MeSH Supplementary Concept]
- chromosome 1q21.1 deletion syndrome, 1.35-Mb [MeSH concept]

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